ClinVar Miner

Submissions for variant NM_020533.3(MCOLN1):c.783G>A (p.Thr261=)

gnomAD frequency: 0.00006  dbSNP: rs200484869
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000309039 SCV000343222 uncertain significance not provided 2016-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001089388 SCV001083849 likely benign Mucolipidosis type IV 2024-01-24 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001089388 SCV001652844 likely benign Mucolipidosis type IV 2021-05-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411168 SCV002670039 likely benign Inborn genetic diseases 2022-09-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc. RCV001089388 SCV001461391 uncertain significance Mucolipidosis type IV 2018-10-29 no assertion criteria provided clinical testing

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